PMC Articles for MedGen (Select 1830501) - PMC

Alleene V. Strickland, Maria Schabhüttl, Hans Offenbacher, Matthis Synofzik, Natalie S. Hauser, Michaela Brunner-Krainz, Ursula Gruber-Sedlmayr, Steven A. Moore, Reinhard Windhager, Benjamin Bender, Matthew Harms, Stephan Klebe, Peter Young, Marina Kennerson, Avencia Sanchez Mejias Garcia, Michael A. Gonzalez, Stephan Züchner, Rebecca Schule, Michael E. Shy, Michaela Auer-Grumbach

J Neurol. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: J Neurol. 2015 Sep; 262(9): 2124–2134. Published online 2015 Jun 24. doi: 10.1007/s00415-015-7727-2

PMCID:: PMC4573829

Abstract Article PDF–714K

Select item 43517145.

Exome Sequencing Identifies DYNC1H1 Variant Associated with Vertebral Abnormality and SMA-LED

Jaya Punetha, Soledad Monges, Maria Emilia Franchi, Eric P Hoffman, Sebahattin Cirak, Carolina Tesi-Rocha

Pediatr Neurol. Author manuscript; available in PMC 2016 Feb 1.

Published in final edited form as: Pediatr Neurol. 2015 Feb; 52(2): 239–244. Published online 2014 Oct 5. doi: 10.1016/j.pediatrneurol.2014.09.003

PMCID:: PMC4351714

Abstract Article PDF–426K

Select item 43361056.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

Mariacristina Scoto, Alexander M. Rossor, Matthew B. Harms, Sebahattin Cirak, Mattia Calissano, Stephanie Robb, Adnan Y. Manzur, Amaia Martínez Arroyo, Aida Rodriguez Sanz, Sahar Mansour, Penny Fallon, Irene Hadjikoumi, Andrea Klein, Michele Yang, Marianne De Visser, W.C.G. (Truus) Overweg-Plandsoen, Frank Baas, J. Paul Taylor, Michael Benatar, Anne M. Connolly, Muhammad T. Al-Lozi, John Nixon, Christian G.E.L. de Goede, A. Reghan Foley, Catherine Mcwilliam, Matthew Pitt, Caroline Sewry, Rahul Phadke, Majid Hafezparast, W.K. “Kling” Chong, Eugenio Mercuri, Robert H. Baloh, Mary M. Reilly, Francesco Muntoni

Neurology. 2015 Feb 17; 84(7): 668–679. doi: 10.1212/WNL.0000000000001269

PMCID:: PMC4336105

Abstract Article PDF–1.0M

Select item 41096837.

Novel dynein DYNC1H1 neck and motor domain mutations link distal SMA and abnormal cortical development

Chiara Fiorillo, Francesca Moro, Julie Yi, Sarah Weil, Giacomo Brisca, Guja Astrea, Mariasavina Severino, Alessandro Romano, Roberta Battini, Andrea Rossi, Carlo Minetti, Claudio Bruno, Filippo M. Santorelli, Richard Vallee

Hum Mutat. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Hum Mutat. 2014 Mar; 35(3): 298–302. Published online 2014 Jan 3. doi: 10.1002/humu.22491

PMCID:: PMC4109683

Abstract Article PDF–618K

Select item 37481808.

Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age

Judith Eschbach, Jérome Sinniger, Jamal Bouitbir, Anissa Fergani, Joffrey Zoll, Bernard Geny, Frédérique Rene, Yves Larmet, Robert H. Baloh, Matthew B. Harms, Michael E. Shy, Nadia Messadeq, Patrick Weydt, Jean-Philippe Loeffler, Albert C. Ludolph, Luc Dupuis

Neurobiol Dis. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Neurobiol Dis. 2013 Oct; 58: 220–230. Published online 2013 Jun 4. doi: 10.1016/j.nbd.2013.05.015

PMCID:: PMC3748180

Abstract Article PDF–3.9M

Select item 36752379.

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Kornelia Neveling, Lilian A. Martinez-Carrera, Irmgard Hölker, Angelien Heister, Aad Verrips, Seyyed Mohsen Hosseini-Barkooie, Christian Gilissen, Sascha Vermeer, Maartje Pennings, Rowdy Meijer, Margot te Riele, Catharina J.M. Frijns, Oksana Suchowersky, Linda MacLaren, Sabine Rudnik-Schöneborn, Richard J. Sinke, Klaus Zerres, R. Brian Lowry, Henny H. Lemmink, Lutz Garbes, Joris A. Veltman, Helenius J. Schelhaas, Hans Scheffer, Brunhilde Wirth

Am J Hum Genet. 2013 Jun 6; 92(6): 946–954. doi: 10.1016/j.ajhg.2013.04.011

PMCID:: PMC3675237

Abstract Article PDF–1.4M

Select item 335958210.

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

M.B. Harms, K.M. Ori-McKenney, M. Scoto, E.P. Tuck, S. Bell, D. Ma, S. Masi, P. Allred, M. Al-Lozi, M.M. Reilly, L.J. Miller, A. Jani-Acsadi, A. Pestronk, M.E. Shy, F. Muntoni, R.B. Vallee, R.H. Baloh

Neurology. 2012 May 29; 78(22): 1714–1720. doi: 10.1212/WNL.0b013e3182556c05

PMCID:: PMC3359582

Abstract Article PDF–698K

Select item 1041863511.

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment

Hisahide Nishio, Emma Tabe Eko Niba, Toshio Saito, Kentaro Okamoto, Yasuhiro Takeshima, Hiroyuki Awano

Int J Mol Sci. 2023 Aug; 24(15): 11939. Published online 2023 Jul 26. doi: 10.3390/ijms241511939

PMCID:: PMC10418635

Abstract Article PDF–3.5M

Select item 1027236612.

Protocol for mapping of the supplementary motor area using repetitive navigated transcranial magnetic stimulation

Melina Engelhardt, Giulia Kern, Jari Karhu, Thomas Picht

Front Neurosci. 2023; 17: 1185483. Published online 2023 Jun 2. doi: 10.3389/fnins.2023.1185483

PMCID:: PMC10272366

Abstract Article PDF–1.0M

Select item 942645813.

Continuous theta burst stimulation over left supplementary motor area facilitates auditory-vocal integration in individuals with Parkinson’s disease

Guangyan Dai, Meng Wang, Yongxue Li, Zhiqiang Guo, Jeffery A. Jones, Tingni Li, Yichen Chang, Emily Q. Wang, Ling Chen, Peng Liu, Xi Chen, Hanjun Liu

Front Aging Neurosci. 2022; 14: 948696. Published online 2022 Aug 16. doi: 10.3389/fnagi.2022.948696

PMCID:: PMC9426458

Abstract Article PDF–2.1M

Select item 930950814.

Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations

Jia-Tong Li, Si-Qi Dong, Dong-Qing Zhu, Wen-Bo Yang, Ting Qian, Xiao-Ni Liu, Xiang-Jun Chen

Front Neurol. 2022; 13: 943324. Published online 2022 Jul 11. doi: 10.3389/fneur.2022.943324

PMCID:: PMC9309508

Abstract Article PDF–2.0M

Select item 856751615.

Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report

Feng-Juan Ding, Gui-Zhen Lyu, Victor Wei Zhang, Hua Jin

World J Clin Cases. 2021 Oct 26; 9(30): 9302–9309. Published online 2021 Oct 26. doi: 10.12998/wjcc.v9.i30.9302

PMCID:: PMC8567516

Abstract Article PDF–6.0M

Select item 831215016.

A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report

Alexa Derksen, Amytice Mirchi, Luan T. Tran, Lei Cao-Lei, Maryam Oskoui, Myriam Srour, Chantal Poulin, Care4Rare Canada Consortium, Geneviève Bernard

Child Neurol Open. 2021 Jan-Dec; 8: 2329048X211027438. Published online 2021 Jul 23. doi: 10.1177/2329048X211027438

PMCID:: PMC8312150

Abstract Article PDF–345K

Select item 824995617.

Why people are becoming addicted to social media: A qualitative study

Maryam Chegeni, Parvin Mangolian Shahrbabaki, Mahin Eslami Shahrbabaki, Nouzar Nakhaee, Aliakbar Haghdoost

J Educ Health Promot. 2021; 10(1): 175. Published online 2021 May 31. doi: 10.4103/jehp.jehp_1109_20

PMCID:: PMC8249956

Abstract Article PDF–607K

Select item 585238418.

Plastin 3 Promotes Motor Neuron Axonal Growth and Extends Survival in a Mouse Model of Spinal Muscular Atrophy

Aziza Alrafiah, Evangelia Karyka, Ian Coldicott, Kayleigh Iremonger, Katherin E. Lewis, Ke Ning, Mimoun Azzouz

Mol Ther Methods Clin Dev. 2018 Jun 15; 9: 81–89. Published online 2018 Jan 31. doi: 10.1016/j.omtm.2018.01.007

PMCID:: PMC5852384

Abstract Article PDF–1.8M

Select item 534374519.

Learning disabilities in neuromuscular disorders: a springboard for adult life

Guja Astrea, Roberta Battini, Sara Lenzi, Silvia Frosini, Silvia Bonetti, Elena Moretti, Silvia Perazza, Filippo M. Santorelli, Chiara Pecini

Acta Myol. 2016 Oct; 35(2): 90–95.

PMCID:: PMC5343745

Abstract Article PDF–163K

Select item 438965120.

Morphological changes and altered expression of antioxidant proteins in a heterozygous dynein mutant; a mouse model of spinal muscular atrophy

Larisa M. Wiggins

Oxid Antioxid Med Sci. Author manuscript; available in PMC 2015 Apr 8.

Published in final edited form as: Oxid Antioxid Med Sci. 2014; 3(3): 161–173. doi: 10.5455/oams.310714.or.071

PMCID:: PMC4389651

Abstract Article PDF–2.8M

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